TY - JOUR
T1 - Tracheal Agenesis with Multiple Congenital Anomalies
T2 - A Case Report
AU - Wang, Chuang Ming
AU - Chen, Shu Jen
AU - Lu, Jen Her
AU - Hwang, Be Tau
N1 - Copyright:
Copyright 2004 Elsevier Science B.V., Amsterdam. All rights reserved.
PY - 1998
Y1 - 1998
N2 - Tracheal agenesis (TA) is a rare congenital anomaly that is incompatible with prolonged life. It may occur alone or with other associated anomalies. A term infant presented with cyanosis, hypotonia, absence of crying and respiratory distress at birth. Intubation was difficult. Esophageal intubation was performed under laryngoscopy. As TA was suspected, a bronchoscopy was performed and the infant was found to have a normal epiglottis and vocal cords; however, there was no trachea. Cardiorespiratory deterioration developed and the patient died on the night of the second day at the postnatal age of 41 hours. Tracheal agenesis was confirmed at autopsy. Associated anomalies included bronchoesophageal fistula, double outlet of the right ventricle with ventricular septal defect, bicuspid pulmonary valve, single lobe of the right lung, imperforate anus and a rectourethral fistula. According to development theory, tracheal agenesis and VACTERL (vertebral defects, anal atresia, cardiovascular defects, tracheoesophageal fistula, radial dysplasia or renal defects and limb defects) association may result from a mesodermal deficiency caused by abnormal blastogenesis.
AB - Tracheal agenesis (TA) is a rare congenital anomaly that is incompatible with prolonged life. It may occur alone or with other associated anomalies. A term infant presented with cyanosis, hypotonia, absence of crying and respiratory distress at birth. Intubation was difficult. Esophageal intubation was performed under laryngoscopy. As TA was suspected, a bronchoscopy was performed and the infant was found to have a normal epiglottis and vocal cords; however, there was no trachea. Cardiorespiratory deterioration developed and the patient died on the night of the second day at the postnatal age of 41 hours. Tracheal agenesis was confirmed at autopsy. Associated anomalies included bronchoesophageal fistula, double outlet of the right ventricle with ventricular septal defect, bicuspid pulmonary valve, single lobe of the right lung, imperforate anus and a rectourethral fistula. According to development theory, tracheal agenesis and VACTERL (vertebral defects, anal atresia, cardiovascular defects, tracheoesophageal fistula, radial dysplasia or renal defects and limb defects) association may result from a mesodermal deficiency caused by abnormal blastogenesis.
KW - Axial mesodermal dysplasia spectrum
KW - Tracheal agenesis
KW - VACTERL association
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M3 - Article
C2 - 9509693
AN - SCOPUS:2442582418
SN - 0578-1337
VL - 61
SP - 48
EP - 52
JO - Chinese Medical Journal (Taipei)
JF - Chinese Medical Journal (Taipei)
IS - 1
ER -